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Frasier syndrome is characterized by kidney disease that begins in early childhood. Affected individuals have a condition called focal segmental glomerulosclerosis, in which scar tissue forms in some glomeruli, which are the tiny blood vessels in the kidneys that filter waste from blood.
Frasier syndrome is a urogenital anomaly associated with the WT1 (Wilms tumor 1 gene) gene. It was first characterized in 1964.
A rare genetic, syndromic glomerular disorder characterized by the association of progressive glomerular nephropathy and 46,XY complete gonadal dysgenesis with a high risk of developing gonadoblastoma. Read More. Read Less.
Frasier syndrome. Suggest an update. Disease definition. A rare genetic, syndromic glomerular disorder characterized by the association of progressive glomerular nephropathy and 46,XY complete gonadal dysgenesis with a high risk of developing gonadoblastoma. ORPHA:347. Classification level: Disorder. Prevalence: <1 / 1 000 000.
El síndrome de Frasier es una enfermedad de herencia autosómica dominante con una prevalencia inferior a 1 caso por cada millón de recién nacidos vivos. Hasta la fecha se han descrito unos 150 casos.
21 de jul. de 2021 · Frasier syndrome is a rare disease that affects the kidneys and genitalia. Patients who have Frasier syndrome develop nephrotic syndrome (NS) featuring focal segmental glomerulosclerosis (FSGS) that is resistant to steroid treatment in early childhood.
Definición: El síndrome de Fraser es un síndrome genético malformativo poco frecuente cuyas principales manifestaciones son la criptoftalmia, la sindactilia, las anomalías laríngeas y traqueales y las malformaciones urogenitales.
